Full data view for gene HTT

Information The variants shown are described using the NM_002111.6 transcript reference sequence.

56 entries on 1 page. Showing entries 1 - 56.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

ClassClinical     

RNA change     

Protein     

DNA/Legacy     

Allele     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/- 26i c.3498+1879C= B2a - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= C1d - r.(?) p.(=) - Parent #1 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= C1 - r.(?) p.(=) - Parent #1 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= C1 - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= C1 - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= A5b - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= C1 - r.(?) p.(=) - Parent #1 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= B1a - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= C1 - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= C1 - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= C1 - r.(?) p.(=) - Parent #1 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= C1 - r.(?) p.(=) - Parent #1 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= C1 - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= C1 - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= C1 - r.(?) p.(=) - Parent #1 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= A5b - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= A5b - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= C1 - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= C1 - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= B1a - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= B1a - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= A5b - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= C5a - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= A6x - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= A5b - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= C1 - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= C1 - r.(?) p.(=) - Parent #1 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= C1g - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= C1 - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= C1 - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= C1 - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= C1 - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= C1 - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= C1 - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= C1 - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= C1 - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= A5b - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= C1 - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= C1 - r.(?) p.(=) - Parent #1 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= C1 - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= C1 - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= B1a - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= C1 - r.(?) p.(=) - Parent #1 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= B2b - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= A5b - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= C7b - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= A2a - r.(?) p.(=) - Parent #1 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= A2bxC1X - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= A2b - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= A2a - r.(?) p.(=) - Parent #1 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= A2a - r.(?) p.(=) - Parent #1 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= A2a - r.(?) p.(=) - Parent #1 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= C7a - r.(?) p.(=) - Parent #2 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= A2a - r.(?) p.(=) - Parent #1 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= A2a - r.(?) p.(=) - Parent #1 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
-/- 26i c.3498+1879C= A2bx - r.(?) p.(=) - Parent #1 g.3151813C= - - - HTT_000086 - Kay, submitted EJHG - rs11731237 Germline - - - 0 - DNA SEQ, arraySNP, PCR - - HD - Kay, submitted EJHG - - - Peru - - 0 - - 1 Chris Kay
Legend